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    BIN2 bridging integrator 2 [ Homo sapiens (human) ]

    Gene ID: 51411, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BIN2provided by HGNC
    Official Full Name
    bridging integrator 2provided by HGNC
    Primary source
    HGNC:HGNC:1053
    See related
    Ensembl:ENSG00000110934 MIM:605936; AllianceGenome:HGNC:1053
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRAP-1
    Summary
    Enables phospholipid binding activity. Involved in several processes, including phagocytosis, engulfment; plasma membrane tubulation; and podosome assembly. Located in phagocytic cup and podosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 30.2), spleen (RPKM 24.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BIN2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51281038..51324668, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51243929..51287483, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51674822..51718452, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51593597-51594096 Neighboring gene POU class 6 homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:51614127-51614306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51631660-51632297 Neighboring gene Sharpr-MPRA regulatory region 9853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51633573-51634209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641233-51641734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641735-51642234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51642235-51642736 Neighboring gene DAZ associated protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51663873-51664373 Neighboring gene small cell adhesion glycoprotein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6376 Neighboring gene Sharpr-MPRA regulatory region 8177 Neighboring gene uncharacterized LOC105369767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4466 Neighboring gene Sharpr-MPRA regulatory region 12465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6378 Neighboring gene chymotrypsin like elastase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6379 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:51765098-51765664 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773037-51773538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773539-51774038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51781791-51782290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784367-51784952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784953-51785537 Neighboring gene solute carrier family 4 member 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Inhibition of BIN2 extends reproductive lifespan. Schindler K. Nat Aging, 2021 Nov. PMID 37118339
    2. Brap regulates liver morphology and hepatocyte turnover via modulation of the Hippo pathway. Priest C, et al. Proc Natl Acad Sci U S A, 2022 May 3. PMID 35476518, Free PMC Article
    3. Bin2, a functionally nonredundant member of the BAR adaptor gene family. Ge K, et al. Genomics, 2000 Jul 15. PMID 10903846
    4. Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis. Sánchez-Barrena MJ, et al. PLoS One, 2012. PMID 23285027, Free PMC Article
    5. RIN3 is a negative regulator of mast cell responses to SCF. Janson C, et al. PLoS One, 2012. PMID 23185384, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of BIN2 extends reproductive lifespan.
      Title: Inhibition of BIN2 extends reproductive lifespan.
    2. Bin2 is a membrane-sculpting protein that influences podosome formation, motility and phagocytosis in leucocytes.
      Title: Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Bin2 is a BAR domain adapter protein structurally related but functionally distinct from family members Bin1 and amphiphysin.
      Title: Bin2, a functionally nonredundant member of the BAR adaptor gene family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of aging.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phagocytosis, engulfment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phagocytosis, engulfment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane tubulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane tubulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in podosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in podosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with phagocytic cup IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with phagocytic cup IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in podosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in podosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    bridging integrator 2
    Names
    breast cancer associated protein BRAP1
    breast cancer-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290007.2 → NP_001276936.1  bridging integrator 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB032698, AK300211, BX281612
      Consensus CDS
      CCDS76561.1
      UniProtKB/TrEMBL
      B2RAR0
      Related
      ENSP00000445874.1, ENST00000544402.5
      Conserved Domains (1) summary
      cd07612
      Location:4 → 214
      BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2

    2. NM_001290008.2 → NP_001276937.2  bridging integrator 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AB032698, AK000783, BX281612, DB035315
      Consensus CDS
      CCDS91696.1
      UniProtKB/TrEMBL
      B2RAR0
      Related
      ENSP00000410217.3, ENST00000452142.7
      Conserved Domains (2) summary
      cl12013
      Location:30 → 208
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl28033
      Location:231 → 451
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    3. NM_001290009.2 → NP_001276938.1  bridging integrator 2 isoform 4

      See identical proteins and their annotated locations for NP_001276938.1

      Status: VALIDATED

      Source sequence(s)
      AB032698, AK225911, BX281612, DB035315
      UniProtKB/Swiss-Prot
      Q9UBW5
      Related
      ENST00000605039.5
      Conserved Domains (2) summary
      cl12013
      Location:1 → 116
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl28033
      Location:139 → 359
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    4. NM_001364779.1 → NP_001351708.1  bridging integrator 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC046135
      UniProtKB/TrEMBL
      B2RAR0
      Conserved Domains (2) summary
      cd07612
      Location:30 → 240
      BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2
      cl28033
      Location:251 → 482
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    5. NM_001364780.1 → NP_001351709.1  bridging integrator 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC046135
      UniProtKB/TrEMBL
      B2RAR0
      Related
      ENSP00000474972.3, ENST00000604560.6
      Conserved Domains (2) summary
      cd07612
      Location:30 → 240
      BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2
      cl25496
      Location:264 → 536
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    6. NM_001364781.1 → NP_001351710.1  bridging integrator 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC046135
      UniProtKB/TrEMBL
      B2RAR0
      Conserved Domains (2) summary
      cl12013
      Location:30 → 201
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl28033
      Location:193 → 429
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    7. NM_016293.4 → NP_057377.4  bridging integrator 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AB032698, AF146531, BX281612, DB035315
      Consensus CDS
      CCDS8811.3
      UniProtKB/Swiss-Prot
      B7Z6F3, F5H0W4, Q86VV0, Q9NWK4, Q9UBW5, Q9UKN4
      UniProtKB/TrEMBL
      B2RAR0
      Related
      ENSP00000483983.2, ENST00000615107.6
      Conserved Domains (2) summary
      cd07612
      Location:30 → 240
      BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2
      cl28033
      Location:263 → 483
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51281038..51324668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428968.1 → XP_047284924.1  bridging integrator 2 isoform X1

    RNA

    1. XR_001748746.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51243929..51287483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372217.1 → XP_054228192.1  bridging integrator 2 isoform X1

    RNA

    1. XR_008488610.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBW5.3 GenPept UniProtKB/Swiss-Prot:Q9UBW5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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